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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly) (read full description).
Oct 17, 2019
anaphase-promoting complex subunit 2
The ANAPC2 gene codes for a protein that is a subunit in the anaphase promoting complex. This complex is important for progression through the cell cycle and is involved in the degradation of the spindle fibers, which signals the transition from metaphase to anaphase (Jörgensen et al., 2001).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!